Article

Massively Parallel Polyribosome Profiling Reveals Translation Defects of Human Disease-Relevant UTR Mutations

2024-04-13

Abstract excerpt

<h4>ABSTRACT</h4> The untranslated regions (UTRs) of mRNAs harbor regulatory elements influencing translation efficiency. Although 3.7% of disease-relevant human mutations occur in UTRs, their exact role in pathogenesis remains unclear. Through metagene analysis, we mapped pathogenic UTR mutations to regions near coding sequences, with a focus on the upstream open reading frame (uORF) initiation site. Subsequentl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 35652df4-9473-5260-aea4-1a62aaffcc37
DOI: 10.1101/2024.04.11.589132

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Massively Parallel Polyribosome Profiling Reveals Translation Defects of Human Disease-Relevant UTR MutationsDOI 10.1101/2024.04.11.589132Read

Genome-wide detection of human 5' UTR variants that impact protein translation.Semantic proximity Read

Human 5′ UTR design and variant effect prediction from a massively parallel translation assaySemantic proximity Read

A comprehensive catalog of predicted functional upstream open reading frames in humans.Semantic proximity Read

Toward a model of uORF-mediated translational control: An integrated bioinformatic and experimental approachSemantic proximity Read

Disrupting upstream translation in mRNAs leads to loss-of-function associated with human diseaseSemantic proximity Read

Translatome and translation dynamics analysis of a RiboCancer cell line panel reveals that leukemia-associated Rps15 mutations rewire translation through codon-specific tRNA accommodation defectsSemantic proximity Read

Sequence-intrinsic barriers define a class of translation-restricted uORFs in the human genomeSemantic proximity Read

A systematic delineation of 3′UTR regulatory elements and their contextual associationsSemantic proximity Read

An Improved Human smORF Annnotation Workflow Combining De Novo Transcriptome Assembly and Ribo-SeqSemantic proximity Read

Disrupting upstream translation in mRNAs is associated with human disease.Semantic proximity Read

5' UTR length shapes alternative N-terminal protein isoforms across cancers and in rare disease.Semantic proximity Read

5′ UTR length regulates alternative N-terminal protein isoform production in health and diseaseSemantic proximity Read